P47L (p.Pro47Leu) variant of GFAP (Glial fibrillary acidic protein)
P47L (p.Pro47Leu) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inborn genetic diseases; not specified; Alexander disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and published literature.
P47L (p.Pro47Leu) variant details
- p.Pro47Leu
- rs57474185
- ClinGen CA217146
- ClinVar RCV000056852
- ClinVar RCV000210687
- Benign/Likely benign
- Inborn genetic diseases; not specified; Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- CADD 21.00
- PolyPhen-2 0.02
- SIFT 0.21
- ClinVar: Benign/Likely benign (Inborn genetic diseases; not specified; Alexander disease)
- EBI: Benign (in dbSNP:rs57474185)
- UniProt: Benign (in dbSNP:rs57474185)
- Most common in the REMAINING population (allele frequency 0.00048)
- Cited in: Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. (PMID 11138011)
- Cited in: Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. (PMID 15732097)